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LOC121627904 Sharpr-MPRA regulatory region 14745 [ Homo sapiens (human) ]

Gene ID: 121627904, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121627904
Gene description
Sharpr-MPRA regulatory region 14745
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627904 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33792143..33792437)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35518501..35518795)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32379949..32380243)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32321171-32321874 Neighboring gene zinc finger protein 341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32349191-32349692 Neighboring gene ribosomal protein L31 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17746 Neighboring gene Sharpr-MPRA regulatory region 4652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12823 Neighboring gene ZNF341 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12013 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32399709-32400549 Neighboring gene charged multivesicular body protein 4B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32441073-32441573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12826 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32450578-32450741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32458568-32459068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32495633-32496134 Neighboring gene tropomyosin 3 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_075095.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    33792143..33792437
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    35518501..35518795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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